• BMB Reports
• /
• 제37권1호
• /
• pp.11-27
• /
• 2004

The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics and population-based studies. Among variations being analyzed, single nucleotide polymorphisms seem to be most useful in large-scale genetic analysis. This review discusses approaches for genetic analysis, use of different markers, and emerging technologies for large-scale genetic analysis where millions of genotyping need to be performed.

• 대한유전성대사질환학회지
• /
• 제5권1호
• /
• pp.94-107
• /
• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제16권1호
• /
• pp.17-21
• /
• 2013

The gut mucosal barrier plays an important role in maintaining a delicate immune homeostasis. The pathogenesis of inflammatory bowel disease (IBD) is considered to involve a defective mucosal immunity along with a genetic predisposition. Recent views have suggested an excessive response to components of the gut microbiota in IBD. A condition of "dysbiosis", with alterations of the gut microbial composition, has been observed in patients with IBD. In this article, the author review recent studies of gut microbiota in IBD, particularly the importance of the gut microbiota in the pathogenesis of pediatric IBD.

• 생명과학회지
• /
• 제14권5호
• /
• pp.847-854
• /
• 2004

알러지는 복합적인 유전적, 환경적 요인에 의해 발병하는 질환이다. 선진국에서 알러지 질환의 수가 증가함에 따라 알러지에 대한 관심이 증가하고 있으며 이에 대한 유전적인 원인에 대한 관심도 증가하고 있다. 알러지에는 천식, 아토피, 비염을 포함한 알러지에 관련된 유전자와 염색체 부위가 밝혀지고 있다. 하지만 이들에 대한 평가 및 확인이 제대로 진행되지 않는 상황이다. 본 연구팀은 알러지를 일으키는 유전적인 요인을 찾고자 하였다. 과학영재학교 138명을 대상으로 하였고 이들 중 약 30%가 천식, 아토피, 비염과 같은 알러지 질환을 앓고 있었다. 본 연구팀은 지금까지 보고된 연구 결과들을 토대로 알러지에 관련된 유전자를 찾았으며 그중 알러지를 일으키는데 관여하는 IL-4와 IL-4Ra를 후보 유전자로 선정하였다. 지금까지 발표된 보고들은 SNP의 발견과 그리고 하나 혹은 두개의 SNP에 초점을 맞추어 발표한 반면, 본 연구팀은 알러지와 관련하여 발표된 IL-4와 IL-4Ra의 SNP를 종합적으로 분석하고자 하였다 과학영재학교 학생들 96명을 머리카락 샘플을 확보하고 이 것으로 9개 의 SNP를 선정 하여 염기서열 분석 및 MALDI-TOF을 이용한 유전자 분석을 진행하였다. 각각의 SNP에 대해 알러지를 가지고 있는 그룹과 정상 그룹간의 약간의 차이들은 있었지만 이것이 알러지를 가지고 있는 사람과 정상인과의 구분을 시켜줄 수 있을 정도는 아니었다. 이러한 결과는 현재 한국에서 널리 행하여지고 있는 유전자 검사에 대한 재고가 필요함을 시사한다.

• Journal of Periodontal and Implant Science
• /
• 제43권3호
• /
• pp.111-120
• /
• 2013

Periodontitis is a common oral disease that is characterized by infection and inflammation of the tooth supporting tissues. While its incidence is highly associated with outgrowth of the pathogenic microbiome, some patients show signs of predisposition and quickly fall into recurrence after treatment. Recent research using genetic associations of candidates as well as genome-wide analysis highlights that variations in genes related to the inflammatory response are associated with an increased risk of periodontitis. Intriguingly, some of the genes are regulated by epigenetic modifications, supposedly established and reprogrammed in response to environmental stimuli. In addition, the treatment with epigenetic drugs improves treatment of periodontitis in a mouse model. In this review, we highlight some of the recent progress identifying genetic factors associated with periodontitis and point to promising approaches in epigenetic research that may contribute to the understanding of molecular mechanisms involving different responses in individuals and the early detection of predispositions that may guide in future oral treatment and disease prevention.

• Preventive Nutrition and Food Science
• /
• 제20권1호
• /
• pp.1-7
• /
• 2015

Obesity has become one of the major public health problems all over the world. Recent novel eras of research are opening for the effective management of obesity though gene and nutrient intake interactions because the causes of obesity are complex and multifactorial. Through GWASs (genome-wide association studies) and genetic variations (SNPs, single nucleotide polymorphisms), as the genetic factors are likely to determine individuals' obesity predisposition. The understanding of genetic approaches in nutritional sciences is referred as "nutrigenomics". Nutrigenomics explores the interaction between genetic factors and dietary nutrient intake on various disease phenotypes such as obesity. Therefore, this novel approach might suggest a solution for the effective prevention and treatment of obesity through individual genetic profiles and help improve health conditions.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제22권1호
• /
• pp.50-56
• /
• 2019

The incidence of pediatric inflammatory bowel disease (IBD) is increasing worldwide, especially in the developing countries. It differs from adult disease in clinical manifestations, especially with regard to genetic predisposition in monogenic IBD. Pediatric disease also have a tendency to show more aggressive inflammation and greater extent of lesion. Newer drugs such as anti-tumor necrosis factor ${\alpha}$ have been known to make a difference in treating pediatric IBD. Recent studies suggested that the patients with high risk factors might have some benefits from earlier use of biologics. To achieve treatment goals such as relieving symptoms, optimizing growth, and improving quality of life while minimizing drug toxicity, more research is needed to develop tools for risk stratification in the use of biologics for pediatric IBD.

• Journal of Genetic Medicine
• /
• 제11권1호
• /
• pp.1-10
• /
• 2014

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by selective destruction of pancreatic ${\beta}$-cells resulting in insulin deficiency. The genetic determinants of T1D susceptibility have been linked to several loci, in particular to the human leukocyte antigen (HLA) region, which accounts for 50% of the genetic risk of developing T1D. Multiple genes in the HLA region, which are in strong linkage disequilibrium, are thought to be involved. Another important locus, with a smaller effect on genetic predisposition to T1D, is the insulin gene. The advent of numerous single nucleotide polymorphism markers and genome screening has enabled the identification of dozens of new T1D susceptibility loci. Some of them appear to predispose to T1D independently of the HLA and may be important in families with T1D who lack strong HLA susceptibility. Other loci may interact with each other to cause susceptibility. The autoimmune response against ${\beta}$-cells can also be triggered by environmental factors in the presence of a predisposing genetic background. Deciphering the environmental and genetic factors involved should help to understand the origin of T1D and aid in the design of individualized prevention programs.

• Asian Pacific Journal of Cancer Prevention
• /
• 제17권8호
• /
• pp.3855-3859
• /
• 2016

Colorectal cancer (CRC) is reproted to be the third most common cancer worldwide and the fourth most common cause of cancer related deaths. CRC is considered to be a multifactorial disease whose risk varies due to the complex interaction between individual genetic basis and disposure to multiple endogenous factors. Glutathione S-transferases are pro-carcinogenic in CRC and are required for the conjugation between chemotherapeutics and broad spectrum xenobiotics. One hundred and eleven patients with CRC and 128 control subjects without any cancer history were enrolled in this study. Multiplex PCR was applied to determine polymorphisms for the GSTT1 and M1 genes, and PCR-RFLP was applied for the GSTP1 (Ile105Val) gene polymorphism. Values p<0.05 were defined as statistically significant. We detected a significant high correlation between predisposition for CRC and presence of the Ile/Ile genotype of the GSTP1 (IIe105Val) gene polymorphism, but we did not find a significant relationship between predisposition for CRC and GSTT1 and M1 deletion polymorphisms. In addition, we did not determine a relationship between GSTT1, M1 and P1 gene polymorphisms and any clinicopathological features of CRC. GSTT1 null/GSTM1 positive and GSTT1 null/GSTM1 positive/GSTP1 Ile/Ile genotypes were significantly higher in the patient group. Our results revealed that there is no relationship among CRC, its clinicopathologic features, and GSTT1 M1 gene polymorphisms. However, there was a significant correlation between CRC and the GSTP1 Ile/Ile genotype. Further studies with larger patient groups are required to delineate the relationships between GST gene polymorphisms and the clinicopathologic features of CRC in Turkey.

• Clinical and Experimental Pediatrics
• /
• 제57권11호
• /
• pp.472-478
• /
• 2014

Kawasaki disease (KD), an acute vasculitis that primarily affects young children, is the most common acquired paediatric cardiovascular disease in developed countries. While sequelae of arterial inflammation in the acute phase of KD are well documented, its late effects on vascular health are increasingly unveiled. Late vascular dysfunction is characterized by structural alterations and functional impairment in term of arterial stiffening and endothelial dysfunction and shown to involve both coronary and systemic arteries. Further evidence suggests that continuous low grade inflammation and ongoing active remodeling of coronary arterial lesions occur late after acute illness and may play a role in structural and functional alterations of the arteries. Potential importance of genetic modulation on vascular health late after KD is implicated by associations between mannose binding lectin and inflammatory gene polymorphisms with severity of peripheral arterial stiffening and carotid intima-media thickening. The changes in cholesterol and lipoproteins levels late after KD further appear similar to those proposed to be atherogenic. While data on adverse vascular health are less controversial in patients with persistent or regressed coronary arterial aneurysms, data appear conflicting in individuals with no coronary arterial involvements or only transient coronary ectasia. Notwithstanding, concerns have been raised with regard to predisposition of KD in childhood to accelerated atherosclerosis in adulthood. Until further evidence-based data are available, however, it remains important to assess and monitor cardiovascular risk factors and to promote cardiovascular health in children with a history of KD in the long term.